Varaico: Literature-Extracted Genetic Variants

SDHA

1,054 papers

RefSeq Summary

This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is lo...

Pfam Domains

FAD_binding_2aa 63–457UCSCFAD binding domain

Succ_DH_flav_Caa 512–664UCSCFumarate reductase flavoprotein C-term

Gene Aliases

HGNC Name

succinate dehydrogenase complex flavoprotein subunit A

HGNC Previous Symbol

SDH2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004168.4

p.G6V

c.17G>T

Surrounding Variants

5 papers

NM_004168.4

p.G6D

c.17G>A

1 paper

NM_004168.4

p.L7_S8del2

c.19_23del6

1 paper

NM_004168.4

p.L7_S12delFs

c.19_35del17

2 papers

NM_004168.4

p.G6S

c.16G>A

1 paper

NM_004168.4

p.G6insFs

c.17_18dupGC

1 paper

NM_004168.4

p.G6_L7delFs

c.18_21del4

1 paper

NM_004168.4

p.L7fs

c.19_20fs

2 papers

NM_004168.4

p.L7V

c.19C>G

1 paper

NM_004168.4

p.L7L

c.19C>T

1 paper

NM_004168.4

p.L7fs

c.19_20fs

1 paper

NM_004168.4

p.G6_S12delFs

c.17_35del19

4 papers

NM_004168.4

p.R5Q

c.14G>A